Protein Dossier — GSN (Gelsolin)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.154 |
0.0548 |
0.00483 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: ankylosing spondylitis |
0.431 |
0.168 |
0.0104 |
Wald ratio |
1 |
cis |
NA |
| Lung adenocarcinoma |
0.365 |
0.143 |
0.0108 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
-0.157 |
0.0681 |
0.0215 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0381 |
0.0171 |
0.0264 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.164 |
0.0787 |
0.0372 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.193 |
0.0943 |
0.041 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.163 |
0.0803 |
0.043 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
-0.0259 |
0.0132 |
0.0497 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.378 |
0.203 |
0.0631 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: small intestine or small bowel cancer |
0.675 |
0.371 |
0.0689 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.021 |
0.0117 |
0.0722 |
Wald ratio |
1 |
cis |
NA |
| …and 60 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4775_34_3 |
Gelsolin |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
34 association rows across 26 traits (29 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Bone mineral density mean |
1e-300 |
rs117584126 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| GSN protein levels |
2e-147 |
rs116185403 |
3 |
GCST90469409 |
no MR -> candidate analysis |
| Gelsolin (analyte X4775.34) levels |
1e-45 |
rs76098787 |
1 |
GCST90426105 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein GSN levels |
1e-44 |
rs41273422 |
1 |
GCST90945002 |
no MR -> candidate analysis |
| DNA repair protein RAD51 homolog 3 levels |
2e-37 |
rs41273422 |
1 |
GCST90424458 |
no MR -> candidate analysis |
| Gelsolin levels |
3e-32 |
rs10985196 |
3 |
GCST90247716 |
no MR -> candidate analysis |
| RNF41/WWP2 protein level ratio |
1e-28 |
rs55932622 |
1 |
GCST90315782 |
no MR -> candidate analysis |
| Kinetochore protein NDC80 homolog levels |
4e-26 |
rs41273422 |
1 |
GCST90421913 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
5e-18 |
rs9792437 |
2 |
GCST90838669 |
no MR -> candidate analysis |
| Hemoglobin A1c levels |
5e-16 |
rs1560980 |
1 |
GCST90018958 |
no MR -> candidate analysis |
| Uncharacterized protein C10orf35 levels |
4e-13 |
rs76098787 |
1 |
GCST90427273 |
no MR -> candidate analysis |
| Circulating HMOX1 levels (id: OID00432_OID20217) |
4e-12 |
rs3747850 |
1 |
GCST90859792 |
no MR -> candidate analysis |
| …and 14 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 742 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| Finnish type amyloidosis |
0.838 |
— |
established (curated) |
no MR -> candidate analysis |
| Familial amyloidosis, Finnish type |
0.73 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.683 |
— |
established (curated) |
no MR -> candidate analysis |
| cervical carcinoma |
0.421 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.368 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 5 rows above, 5 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Gelsolin) |
| gnomAD constraint |
pLI=2.8e-12, LOEUF=0.816 — LoF-tolerant |
| GWAS Catalog |
49 unique SNPs / 98 rows |
| ClinVar |
1022 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 742 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.
chembl — ChEMBL target matched by text search on ‘GSN’ and resolved to ‘Gelsolin’ — confirm this is the intended target.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1022 ClinVar records for this gene; it is a sample, not a rate.
pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).
gwas_traits — Top 20 of 26 traits by best p-value, aggregated from 34 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P06396 — UniProt release 2026_02 (10-June-2026)
mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0
phenome: https://platform.opentargets.org/target/ENSG00000148180/associations — Open Targets data release 26.06
chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295700/ — ChEMBL_37 (released 2026-05-01)
gnomad: https://gnomad.broadinstitute.org/gene/GSN — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/GSN — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GSN%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/GSN — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:55:05 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none